Search Results - "PANDYA, Arti"

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    American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss by Alford, Raye L, Arnos, Kathleen S, Fox, Michelle, Lin, Jerry W, Palmer, Christina G, Pandya, Arti, Rehm, Heidi L, Robin, Nathaniel H, Scott, Daryl A, Yoshinaga-Itano, Christine

    Published in Genetics in medicine (01-04-2014)
    “…Hearing loss is a common and complex condition that can occur at any age, can be inherited or acquired, and is associated with a remarkably wide array of…”
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    A Homozygous Mutation in a Novel Zinc-Finger Protein, ERIS, Is Responsible for Wolfram Syndrome 2 by Amr, Sami, Heisey, Cindy, Zhang, Min, Xia, Xia-Juan, Shows, Kathryn H., Ajlouni, Kamel, Pandya, Arti, Satin, Leslie S., El-Shanti, Hatem, Shiang, Rita

    Published in American journal of human genetics (01-10-2007)
    “…A single missense mutation was identified in a novel, highly conserved zinc-finger gene, ZCD2, in three consanguineous families of Jordanian descent with…”
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    Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases by Kumar, Virang, Pandya, Arti, Couser, Natario L.

    “…Oculodentodigital dysplasia (ODDD) is a rare genetic disorder associated with a characteristic craniofacial profile with variable dental, limb, eye, and ocular…”
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    Analyses of del(GJB6‐D13S1830) and del(GJB6‐D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families by Pandya, Arti, O'Brien, Alexander, Kovasala, Michael, Bademci, Guney, Tekin, Mustafa, Arnos, Kathleen S.

    Published in Molecular genetics & genomic medicine (01-04-2020)
    “…Background Mutations involving the closely linked GJB2 and GJB6 at the DFNB1 locus are a common genetic cause of profound congenital hearing loss in many…”
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    Etiology of unilateral hearing loss in a national hereditary deafness repository by Dodson, Kelley M., MD, Georgolios, Alexandros, MD, Barr, Noelle, BS, Nguyen, Bich, MD, Sismanis, Aristides, MD, Arnos, Kathleen S., PhD, Norris, Virginia W., MS, Chapman, Derek, PhD, Nance, Walter E., MD PhD, Pandya, Arti, MD

    Published in American journal of otolaryngology (01-09-2012)
    “…Abstract Purpose The aim of this study was to characterize the genetic, audiologic, and epidemiologic characteristics of unilateral hearing loss (HL) in a…”
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    Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans by Rymer, Karen, Shiang, Rita, Hsiung, Anting, Pandya, Arti, Bigdeli, Tim, Webb, Bradley T., Rhodes, Jennifer

    Published in Molecular genetics & genomic medicine (01-06-2019)
    “…Background Craniosynostosis, or premature fusion of the skull sutures, is a group of disorders that can present in isolation (nonsyndromic) or be associated…”
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    GJB2 Mutations in Mongolia: Complex Alleles, Low Frequency, and Reduced Fitness of the Deaf by Tekin, Mustafa, Xia, Xia‐Juan, Erdenetungalag, Radnaabazar, Cengiz, Filiz Basak, White, Thomas W., Radnaabazar, Janchiv, Dangaasuren, Begzsuren, Tastan, Hakki, Nance, Walter E., Pandya, Arti

    Published in Annals of human genetics (01-03-2010)
    “…SUMMARY We screened the GJB2 gene for mutations in 534 (108 multiplex and 426 simplex) probands with non‐syndromic sensorineural deafness, who were ascertained…”
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    Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians by YAN, Denise, PARK, Hong-Joon, XUE ZHONG LIU, XIAO MEI OUYANG, PANDYA, Arti, DOI, Katsumi, ERDENETUNGALAG, Raadnabazar, LI LIN DU, MATSUSHIRO, Naoki, NANCE, Walter E, GRIFFITH, Andrew J

    Published in Human genetics (01-12-2003)
    “…Mutations in the GJB2 gene encoding connexin 26 (Cx26) are a major cause of autosomal recessive and sporadic cases of congenital deafness in most populations…”
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    Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands by Pandya, Arti, Arnos, Kathleen S, Xia, Xia J, Welch, Katherine O, Blanton, Susan H, Friedman, Thomas B, Garcia Sanchez, Guillermina, Liu MD, Xiu Z, Morell, Robert, Nance, Walter E

    Published in Genetics in medicine (01-07-2003)
    “…Profound hearing loss occurs with a frequency of 1 in 1000 live births, half of which is genetic in etiology. The past decade has witnessed rapid advances in…”
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    A focus group study of consumer attitudes toward genetic testing and newborn screening for deafness by Burton, Sarah K, Withrow, Kara, Arnos, Kathleen S, Kalfoglou, Andrea L, Pandya, Arti

    Published in Genetics in medicine (01-12-2006)
    “…Progress in identifying genes for deafness together with implementation of universal audiologic screening of newborns has provided the opportunity for more…”
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    Genetic hearing loss: the journey of discovery to destination – how close are we to therapy? by Pandya, Arti

    Published in Molecular genetics & genomic medicine (01-11-2016)
    “…The Cx26 and Cx30 loci are located on 13q11 region within 40 kb of each other; however, the Cx26 locus is not involved in the deletion. [...]it is unclear if…”
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    Repurposing of antiangiogenic agents for treatment of vascular anomalies by Blatt, Julie, Brondon, Jennifer E., Nieman, Elizabeth L., Phillips, Kynlon, Pandya, Arti

    Published in Pharmacology & therapeutics (Oxford) (01-10-2023)
    “…Vascular anomalies (VA) are developmental anomalies of veins, arteries, lymphatics or capillaries thought to be caused by mutations in genes that drive…”
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    Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) by Li, Marilyn M., Tayoun, Ahmad Abou, DiStefano, Marina, Pandya, Arti, Rehm, Heidi L., Robin, Nathaniel H., Schaefer, Amanda M., Yoshinaga-Itano, Christine

    Published in Genetics in medicine (01-07-2022)
    “…Hearing loss is a common and complex condition that can occur at any age, can be inherited or acquired, and is associated with a remarkably wide array of…”
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    Journal Article